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microcephaly 11, primary, autosomal recessive - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

microcephaly 11, primary, autosomal recessive

MONDO:0014173

Also known as:PHC1 autosomal recessive primary microcephalyautosomal recessive primary microcephaly caused by mutation in PHC1MCPH11

Overview

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene.

GeneticsAutosomal recessive · PHC1 (chr 12)

ResearchLimited published research (6 articles)

Clinical Presentation

Features include always present findings: Microcephaly and Short stature.

Organ System	Phenotype Count	Example Features
Head and neck	1	Microcephaly
Growth and development	1	Short stature

Explore clinical features

Genetic Landscape

PHC1 function has not been fully characterized.

Microcephaly 11, primary, autosomal recessive is associated with mutations in the PHC1 gene on chromosome 12.

Diagnosis

Genetic testing for PHC1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for microcephaly 11, primary, autosomal recessive.

6 publications have been identified in PubMed for microcephaly 11, primary, autosomal recessive. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (33%), and Basic Science / Preclinical (17%).

Recent Publications

Erdogan M (2025). [PMID: 40243280](https://pubmed.ncbi.nlm.nih.gov/40243280/). *Am J Med Genet A*. [Review / Meta-Analysis]
Mercan M (2025). [PMID: 40085521](https://pubmed.ncbi.nlm.nih.gov/40085521/). *Amyotroph Lateral Scler Frontotemporal Degener*. [Case Report / Case Series]
Ferreira A (2024). [PMID: 39490209](https://pubmed.ncbi.nlm.nih.gov/39490209/). *Stem Cell Res*. [Case Report / Case Series]
Chen B (2024). [PMID: 39680195](https://pubmed.ncbi.nlm.nih.gov/39680195/). *J Neurol*. [Review / Meta-Analysis]
Wang J (2024). [PMID: 39344621](https://pubmed.ncbi.nlm.nih.gov/39344621/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615414

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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microcephaly 11, primary, autosomal recessive

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team